Table 1 CNL involving AD genes: Information on 13 fetuses with adverse pregnancy outcomes
Case number | Indications of amniocentesis | Location | Size (Mb) | Gene | Phenotype and Inheritance | Origin | Pregnancy outcomes |
|---|---|---|---|---|---|---|---|
A1 | ultrasound soft markers | 6p25.3p25.2 | 1.72 | FOXC1 | Anterior segment dysgenesis 3, multiple subtypes AD; Axenfeld-Rieger syndrome, type 3 AD | De novo | Facial abnormalities, Posterior fossa extraaxial cyst |
A2 | advanced maternal age | 6q27 | 1.22 | ERMARD | Periventricular nodular heterotopia 6 AD | Maternal | Ventricular septal defect 7 mm |
A3 | increased risk of a screening test | 11q14.1q14.2 | 8.26 | ALG8; TENM4 | Congenital disorder of glycosylation, type Ih AR; Polycystic liver disease 3 with or without kidney cysts AD; Essential tremor, hereditary, 5 AD | Unknown | Multiple malformations |
A4 | ultrasound soft markers | 10q21.3 | 0.38 | CTNNA3 | Arrhythmogenic right ventricular dysplasia, familial, 13 AD | Unknown | Duodenal stenosis and atresia |
A5 | increased risk of a screening test | 4q25 | 0.22 | SGMS2 | Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia AD | Paternal | Hypospadias |
A6 | advanced maternal age | 4q24 | 0.62 | PPP3CA | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development AD; Developmental and epileptic encephalopathy 91 AD | Unknown | Hydronephrosis |
A7 | increased risk of a screening test | 18q22.3q23 | 4.18 | TSHZ1 | Aural atresia, congenital AD | De novo | Developmental retardation |
A8 | advanced maternal age | 11p15.1p14.3 | 3.26 | ANO5 | Gnathodiaphyseal dysplasia AD; Miyoshi muscular dystrophy 3 AR; Muscular dystrophy, limb-girdle, autosomal recessive 12 AR | De novo | Brain glioma |
A9 | increased risk of a screening test | 11p14.3 | 0.16 | ANO5 | Gnathodiaphyseal dysplasia AD; Miyoshi muscular dystrophy 3 AR; Muscular dystrophy, limb-girdle, autosomal recessive 12 AR | Unknown | Multiple malformations |
A10 | advanced maternal age | 5q11.2 | 0.22 | PDE4D | Acrodysostosis 2, with or without hormone resistance AD | Unknown | Deaf |
A11 | ultrasound soft markers | 3p26.1 | 0.34 | ITPR1 | Gillespie syndrome AD, AR; Spinocerebellar ataxia 15 AD; Spinocerebellar ataxia 29, congenital nonprogressive AD | Paternal | Short limbs |
A12 | increased risk of a screening test | 15q11.2 | 0.32 | NIPA1 | Spastic paraplegia 6, autosomal dominant AD | Paternal | Spontaneous abortion |
A13 | increased risk of a screening test | 20q13.33 | 0.14 | CHRNA4; KCNQ2 | {Nicotine addiction, susceptibility to}; Epilepsy, nocturnal frontal lobe, 1 AD; Developmental and epileptic encephalopathy 7 AD; Myokymia AD; Seizures, benign neonatal, 1 AD | Unknown | Epilepsy |